Newly diagnosed families

 
My doctor just told me my loved one has leukodystrophy, what do I do?

 

  • CONFIRM DIAGNOSIS.
    Even if your doctor tells you they think a loved one has leukodystrophy, you do need to confirm a diagnosis.  An irregular MRI is often the first sign a person might have leukodystrophy, but it is not conclusive evidence.  When working with a doctor to confirm a leukodystrophy diagnosis you should:

  1.  Consider the MRI    

  2.  Use bloodwork and genetic testing to identify metabolic or genetic abnormalities and

  3.  Review a list of symptoms in the patient that may not seem neurological. 


For instance, take careful note if your loved one has:

  • emotional and behavioral outbursts

  • is diagnosed with failure to thrive or starts to lose developmental milestones

  • has gait issues

  • has loss of balance (ataxia)

  • has problems with fine motor control

  • has increased tone in the muscles of the arms or legs (spasticity or dystonia)

  • has decreased tone (hypotonia)  

  • is vomiting, suffers from GERD, and has difficulty eating and swallowing

  • has seizures

 

  • GETTING EXPERT ADVICE
    It may be difficult for your family to travel to a specialist, but if it is possible, this can speed up the diagnosis and your family the help you need. If you cannot travel,  you can ask your doctor to share their findings with a specialist at a Leukodystrophy Center who can discuss the case and help guide your doctors on how to proceed. Leukodystrophies are hard to diagnose and most physicians have little or no experience with these conditions, so it might help if your doctor seeks the guidance of specialists with expertise in leukodystrophy. 

 

  • GET ORGANIZED
    Of course you are frightened and overwhelmed when you go into the doctor to discuss a leukodystrophy diagnosis. But to save time and get answers more quickly  work to get to your visit prepared with a cd- rom of your medical files and all the information from previous doctors’ visits, evaluations, testing, and hospitalizations.  Here is a list of information you should provide for your medical teams. MRIs, Metabolic testing, blood work, spinal taps, and any genetic testing.
    Evaluations from physical therapy and occupational therapists. Medical notes/evaluations/correspondence from physicians, nurses and social workers/case workers who have direct knowledge of the patient and have evaluated them in a medical or school setting.

 

  • LEARN ABOUT YOUR HEALTH COVERAGE

    If your loved one is diagnosed with leukodystrophy, it is important to review your health insurance plan to determine what sort of care and services are covered and whether it is possible to see specialists who may be “outside the system.”  Take careful note whether occupational and physical therapy will be covered and how to order medical equipment. Be sure to work with a primary care physician who can help you write letters of medical necessity to justify the cost of such care to your insurance company.  In many cases, a leukodystrophy diagnosis will make you eligible for Medicaid or supplemental health insurance.  Once a leukodystrophy diagnosis is confirmed, you should contact your state’s Department of Welfare to determine eligibility and apply for Medicaid.  States vary widely in Medicaid coverage and it can take some time to apply and get the supplemental insurance approved.  For families with earning below a certain income, you may be eligible for SSI or Social Security.  Some larger hospitals have a social worker who can help you with this paperwork. 

 

What is leukodystrophy?

A leukodystrophy is a genetic disorder (passed down from the patient’s parents), or a disorder caused by problems in the genes (randomly occurring genetic mutation), resulting in a problem with the white matter of the brain. The brain is made up of grey and white matter. The grey matter is like the memory for a computer, and the white matter (or myelin) is like the computer’s wiring to sends messages to the machine.  Leukodystrophies affect the healthy development of the white matter or myelin.  

Most leukodystrophies are caused by one or two abnormal copies of genes critical to the function of the central nervous system. These abnormal genes can result in either missing proteins or enzymes that result in injury to the cells or myelin in the brain. As a result, critical functions of the white matter are disrupted. Leukodystrophies can be inherited in many different ways, both parents are carriers, one parent is a carrier, or they may be caused by spontaneous mutations.  There are at least two dozen disorders considered to be leukodystrophies. In addition, some other genetic disorders are classified as genetic leukoencephalopathies and have many things in common with the leukodystrophies. Patients with leukodystrophy may have many different symptoms, but some of the symptoms are common across most of the leukodystrophies.  These include symptoms of increased tone in the muscles of the arms and legs. Increased tone may take the form of spasticity and or dystonia. Patients may also have decreased tone in the body, called hypotonia. Patients may also have problems with balance, most often called ataxia.  Together these symptoms may cause problems with using muscles for walking, talking, and fine motor control. Here is a complete list of the known forms of leukodystrophy.

Many patients have preserved cognitive skills, at least in the beginning of the disease.  Over time, depending on the type of leukodystrophy, other medical complications may develop, to include problems with chewing and swallowing, digestion and heartburn, breathing and sleeping problems. Some, but not all, patients may have seizures.

Some leukodystrophies progress rapidly, with changes in patient health and well-being over the course of months, while other leukodystrophies progress only very slowly if at all, with changes measured in years or even decades. Patients can develop symptoms of a leukodystrophy at any age, from infancy to late adulthood, but some disorders tend to present more often in certain age groups.

What is an unspecified leukodystrophy?

Many leukodystrophy patients have a named form of the disease with a known genetic cause, however some families may find their loved one is in the unspecified leukodystrophy category. This occurs when the medical team believes the patient has leukodystrophy based on MRIs and other symptoms, but genetic testing cannot identify the gene causing the disease.  Adeline Vanderver, MD, at the Children's Hospital of Philadelphia,  is one of the world's leading experts on diagnosing such cases and has been working to understand the disease for decades.  It is not uncommon for leukodystrophy patients to spend years on "diagnostic odysseys" in search of a name for their condition and the uncertainty of an unspecified leukodystrophy diagnosis can be confusing and frightening. However, the ULF, Calliope Joy Foundation, and Hunter's Hope work to advocate for families with such diagnoses.   

If your doctors believe your loved one has leukodystrophy but they cannot identify the specific form, you should contact Dr. Adeline Vanderver at the Children's Hospital of Philadelphia and work with her LeukoSEQ whole genomic testing program.  

For more guidance and resources, you can go to the NIH's Undiagnosed Diseases Program https://www.genome.gov/27571751/july-5-2018-the-nih-undiagnosed-diseases-program-celebrates-its-10th-anniversary/.  Also, you can reach out to researcher and parent advocate Matt Might https://www.ngly1.org/superhuman-video-the-might-family/.  Professor Might oversees the Personalized Medicine Program at the University of Alabama-Birmingham. http://matt.might.net

How common are leukodystrophies?

The truth is - it's hard to say. Some estimates put the incidence as high as 1 in 7,000 individuals, Many individuals with leukodystrophies go undiagnosed for months or even years. Undocumented cases further complicate the task of estimating the true disease incidence.

Is there a way to cure leukodystrophy?

Leukodystrophies are inborn genetic disorders and cannot be cured. However, many disorders can be treated clinically by a complex care team. In some cases, disease progression can be slowed and symptoms can be managed or eliminated all together.

Research is paving the way for more advanced and effective clinical approaches to disease management.  Exciting new treatments and therapies are  giving new hope to individuals affected by leukodystrophies.

What is gene therapy? Will it benefit my loved one? 

At present, there are three forms of gene therapy to treat leukodystrophies, Bluebird Bio’s gene therapy treatment for adrenoleukodydstrophy (ALD), Dr. Guangping Gao and Dr. Dominic Gessler’s Canavan disease study, and GSK/TIGET’s treatment for late infantile metachromatic leukodystrophy (MLD). All these treatments are most effective in presymptomatic patients.  The ALD gene therapy trial with bluebird bio has been reopened.  The MLD gene therapy trial has opened a Phase III clinical trial to test the effectiveness of cryopreservation technology (to freeze the repaired cells).  To learn more about the trial, please contact Dr. Francesca Fumagalli via email at Fumagalli.Francesca@hsr.it. .Finally, patients interested in the gene therapy for Canavan disease should contact Dr. Dominic Gessler at Dominic.Gessler@umassmed.edu.  We will be updating you all on new developments we learn about them.

You can watch the CBS Sunday Morning with Jane Pauley to learn more about MLD gene therapy and bluebird bio CEO Nick Leschley’s TED talk. 

 

 
How do I tell my friends, family and other children about leukodystrophy?  

It is emotionally draining and overwhelming to try to explain what leukodystrophy means to family and friends. It might be especially difficult to talk to young children.  There are several wonderful books available. Giving a book or books to family members, co-workers, and teachers can help them learn about the disease without you experiencing the trauma of discussing the diagnosis repeatedly.  

 

The Calliope Joy Foundation created a book titled “Loie’s Disease: A Book About Leukodystrophy”. “Loie’s Disease” uses illustrations and carefully crafted language to discuss leukodystrophy with young children.  You can order “Loie’s Disease” on-line at the Calliope Joy Foundation’s website.

 

We also recommend Jill Kelly’s New York Times bestseller Without a Word: How a Boy’s Unspoken Love Changed Everything. This book chronicles Hall of Fame Quarterback Jim Kelly and his wife Jill’s life caring for their son, Hunter, who was diagnosed with globoid cell leukodystrophy. One parent decided to craft a letter to email friends and family. The  letter was a way for the parent to learn more about the diagnosis and share information with their network of friends and family and give them concrete suggestions about what the family would need.  It can also be helpful to create a Caring Bridge or Facebook page (or have a close friend do so)  to share information and update friends and family. This way people can check-in and you do not have to review the details of what is going on over and over again.

 

Getting a leukodystrophy diagnosis puts great strain on a marriage and family, how can we get through this?

The most important thing to realize is that you are not alone.  There are great organizations and programs to support families (Hunter’s Hope organizes a family conference and Kelly Tough Walks, The Calliope Joy Foundation hosts Cal’s Cupcake Challenge, a family fun day that is free to leukodystrophy families, and check to this page’s event calendar for more opportunities to meet other families).  It is important not to get isolated. Reach out to other families through organizations and social media.

Without question, a leukodystrophy diagnosis will put immense strain on a marriage and other relationships.   The stress may drive some to abuse drugs and alcohol.  It is important to seek out help when you feel overwhelmed. 

 

Your hospital may offer support groups or social workers that can work with you and your family. You can reach out to a pastor or cleric or work with a psychologist or counselor. Children’s hospitals have child life specialists trained in how to discuss serious illness with children and offer support to parents.

By recognizing that strain on a marriage and other relationships is unavoidable, you should take steps to invest in your most important relationships.  Take at least a night off to do something of and relieve the pressures of caring for a loved one with leukodystrophy. You are not being selfish when you take time for yourself and your partner.

 

What we all must do is to fight against the fear and grief becoming all-consuming. This is obvious, but hard to do. Many individuals and couples seek counseling. Others never do.  But, in time, we all find ways to cope, it is important to allow each person in a family to process this diagnosis in their own way.  While one parent may blog or post on Twitter, another family member may rarely discuss their situation with people outside a close circle.   There is no “right” way to manage this situation, but try to learn what works for you.  And be understanding of the fact that what works for you, may not be the best approach for others.

Should I quit my job?

It is very tempting to quit your job.  There is something very compelling about being with a loved one in great need.  If you can afford to leave your job and you want to leave paid employment, you should do so. But, for individuals who continue to work and manage careers, we encourage you not to feel guilty.  Beyond the obvious financial benefits of paid employment, maintaining your job (even if you reduce your hours and take advantage of – family medical leave (also known as FMLA), continuing to work can be an integral part of your coping strategy for living with leukodystrophy.  Be sure to work with your employer and nursing team to figure out the best way to manage work, and don’t ever feel guilty about the decisions you make for your family.

 

I feel like people don’t understand.  People always say they want to help, but I can’t imagine what they can do that will make a difference.

A leukodystrophy diagnosis will overwhelm and frighten those closest to you. You may be surprised at the people who rush to your side and the ones who struggle and might even seem to abandon you. 

Welcome the people who can support you and forgive the ones who cannot.  You  may feel like you need to be brave and soldier on, but caring for a loved one with leukodystrophy is not something you can do on your own. 

 

When a family member or co-workers asks what they can do to help: answer truthfully. Maybe your church can host a fundraiser for a remodeling project? Or a start a fund to help with medical expenses. Tell people  what you need, your friends and family may want to bring over casseroles, but have a close friend or neighbor can  explain how the gift card to the supermarket or a favorite restaurant might actually be helpful than a freezer full of food. Hold on to the activities and pursuits that made you happy before your loved one’s diagnosis, if you enjoy to do yoga, hike, swim, knit, or ride motorcycles, make sure you to do those things. Many people feel so transformed by a diagnosis that they reinvent themselves and discover new pursuits or interests. It is okay and understandable to feel like you need to become a different person. A leukodystrophy diagnosis will change you and your life. 

How can I afford to travel to see specialists with my loved one?

When you first receive the leukodystrophy diagnosis, it can be scary. You wonder how you can afford to travel to see specialists who can help your loved ones. There are a number of foundations and organizations that help with travel expenses.

 

The Calliope Joy Foundation provides a limited number of travel grants to Children’s Hospital of Philadelphia's Leukodystrophy Center.  You can find more information at http://www.thecalliopejoyfoundation.org.Referrals can be made through the hospital social workers.

 

The Kolbe Fund has the Hopeful Nights program in which they provide lodging and parking accommodations for families traveling to receive medical care for their sick child.  Referrals can be made through The Ronald McDonald House and hospital social workers.  They serve families who travel to CHOP, Will Eye Institute, Jefferson, UPenn, Christiana, and A. I. duPont.  You can find more information at www.thekolbefund.org.

 

Patient Airlift Services (PALS) arranges volunteer medical flights and free air transportation for needy individuals in the Northeast region from Virginia to Maine and Ohio to Massachusetts.  You can find more information or request a flight at www.palservices.org.

 

Miracle Flights provides financial assistance to low-income families for commercial air travel to obtain special medical care.  To find more information on this organization or to request a flight, visit www.miracleflights.org.

Angel Flight Oklahoma was created by a group of pilots who believed in volunteering.  They arrange free air transportation for those who are “financially distressed or those who are in a time-critical, non-emergency situation due to their medical condition.”  This organization serves patients in Oklahoma, Texas, Arkansas, Missouri, and Kansas.  To request a flight and find more information visit www.angelflight.com.

Which leukodystrophy patients might benefit from a bone marrow transplant?

Blood stem cell transplantation – also called bone marrow transplantation (BMT) or umbilical cord blood transplantation (UCBT) can be a very effective therapy for some forms of leukodystrophy.  Blood stem cell transplantation can benefit select patients with cerebral adrenoleukodystrophy (ALD with brain disease evident on MRI scan), metachromatic leukodystrophy (MLD), and globoid cell leukodystrophy (or Krabbe disease). In general, if the disease is a very aggressive form or too far advanced, patients might not benefit from this treatment. 

Patients and families are advised to seek urgent consultation at blood stem cell transplantation centers that are experts in the diseases as soon as a diagnosis of leukodystrophy has been established. These centers are able to advise whether blood stem cell transplant is indicated and, if so, how best to proceed to treatment.

The United States National Marrow Donor Program (NMDP) can be a useful resource for identifying centers with experience in using blood stem cell transplantation for leukodystrophies and related disorders.   Centers with expertise in treating leukodystrophy patients  include Duke University Medical Center https://www.dukehealth.org/find-doctors-physicians/joanne-kurtzberg-md,   University of Minnesota Medical Center https://bmt.umn.edu/,  and the Children’s Hospital of Pittsburgh http://www.chp.edu/our-services/rare-disease-therapy.   

My hospital social worker told me to enroll for Medicaid, I have health insurance from my job: why do I need Medicaid?

 


While Medicaid does offer health insurance to low-income families, it also provides supplementary health insurance to cover the costs of caring for special needs and medically complex children. A leukodystrophy diagnosis will often make your child eligible for Medicaid.  Medicaid serves as a supplementary insurance to pick up the costs of care that even very good, private insurers will not cover (EXPENSES such as medical equipment, adaptive strollers, skilled nursing and aides etc.). Medicaid varies greatly by states (and is often described as essentially 50 different insurance companies operating  in the 50 states).  Some states offer more expansive and generous benefits, while others are more difficult to work with and require hiring an attorney or benefits specialists.

 

As you navigate the Medicaid journey it can be useful to work with a complex care pediatrician or primary care pediatrician who works with medically complex children to help file the proper paperwork.  To learn more about advocating for your child and Medicaid, you might find it useful to go to Family Voices and learn more about resources in your state.  Be prepared to be diligent, applying for Medicaid is not going to be easy. 

Since each state has different policies and procedures for applying to Medicaid, check out the  website Kid Waivers to learn about the guidelines for your home state so you can get started.  

 

States purposely make it challenging to enroll in Medicaid as a policy to discourage applications and save money.  It may take months to get enrolled.   Some families may even consider moving to a different state to get better coverage, this is not uncommon.  You can learn more about Medicaid by watching this video produced by Vox tilted "Why it's worse to be sick in certain states?

 

It is also true a leukodystrophy diagnosis may make you eligible for SSI (or Social Security), however, your household family income would have to meet a certain level. Again, you should work with your state officials (welfare office) doctors, and case workers to determine your eligibility.  

 

Many leukodystrophy families, of all political persuasions, have been engaged in the public debates about ACA (Obamacare) and Medicaid.  This essay explains why:  "Why I'm Inviting Members of Congress to Meet My Daughter." If you want to work with other parent advocates committed to supporting care for medically complex kids, check out the work of the Little Lobbyists, a bipartisan group of families who work to champion for health care for special needs and medically complex children.

I am so busy caring for my child with leukodystrophy, I worry that my unaffected children are getting neglected.

 

The reality of caring for a child with leukodystrophy means that it is inevitable your time and attention will go to your medically complex child over your healthy, unaffected children.  Frequent hospitalizations and the demands of your loved one's medical needs may mean that vacations, sporting events, school activities, and even a family night out for dinner become difficult if not impossible to do.  It is comforting to imagine that our "superhero" siblings sacrifice their childhoods to these circumstances without complaint or harm. However, it is important to remember some key issues when considering the health and well-being of the “unaffected” siblings. 

 

Feeling like they need to be perfect. Siblings of individuals with special needs know how hard their families work to ensure all of their sibling’s needs are met, and often see their parents struggle to meet these needs. Many siblings feel like they can’t make mistakes because that would add to their parents’ burden, so they believe they must be perfect at all times.

 

Feeling like they can’t express their feelings. Most typically developing children love their sibling with special needs. Yet they may also resent how much of their parents’ time is taken up by caring for their sibling or feel embarrassed about their siblings’ behavior or appearance.  They feel tremendous shame and guilt over such feelings.   

 

Having a different idea of family and home. For most children the concept of family is based in togetherness. But when a sibling has special needs, family quality time may look different. In some cases, the presence of caregivers and therapists may redefine what a family home is for children. The presence of nurses and aides and medical equipment makes some siblings feel that places outside the home, such as school or a relative’s house, are more of a refuge for them than their home.

 

Feeling as though their problems are minimized. Sometimes a sibling with special needs has complex and even life-threatening problems. An issue faced by a typically developing sibling, whether it is a problem with a friend or an academic struggle, may seem small compared to having limited mobility, learning difficulties or sensory issues that require intensive care or prevent a child from attending the neighborhood school. 

 

Feeling isolated. Typically developing siblings may be lonely because they don’t have peers who have siblings with special needs. So they feel different when their friends ask “what’s wrong with your sister?” Some children also feel self-conscious about their sibling with special needs, and aren’t sure when or how to tell their friends about him. Others feel uncomfortable inviting friends over because they are unsure of how their friend or sibling will react.

 

Dealing with intolerance early and often. Children learn early that there is not universal acceptance for individuals with special needs, and that their sibling is not welcome everywhere that typically developing children are. This can be deeply disappointing to typically developing children who want to have shared experiences with their sibling. They regularly encounter individuals who refuse to move from seats designated for individuals with disabilities, and those who make unkind comments about other accommodations their sister needs. These early lessons in intolerance, and even hate, can affect their worldview and make them cynical or resentful of the limitations placed on their sibling and themselves as a result.

Feeling like they are asked to help too much. Some typically developing children are expected to help care for their sibling with special needs from a young age, even if that sibling is older. One girl said that she felt like the “attention police” at home since her mother was constantly telling her that she had to pay attention to her sibling with special needs. Others are expected to push wheelchairs, participate in therapy sessions, or attend to their sibling’s personal care needs by feeding them or helping to get them dressed. Many are told early on that they will be expected to care for their sibling when their parents are no longer able to do so. This puts enormous pressure on them.

 

Feeling like they must grow up quickly. Because of the sum of their experiences, from feeling as though they are on their own to handle their problems to feeling pressure to be perfect to being given responsibility for their brother or sister, some siblings of children with special needs feel as though they are forced to grow up too quickly.

 

Most typically developing children love their siblings with special needs beyond measure and are close to them. To better understand and support them, it’s important to acknowledge the struggles of typically developing siblings. One mother explained, “After six years of living with leukodystrophy, I realized I needed to acknowledge to my older children that I was not the parent they deserved. I apologized for not being as engaged in their lives as I should have been or wanted to be. I think it was important to let them know I had missed out on their lives too, and that we could all be angry about the situation, and even be angry with me, but I did not want them blame their sister.”

 

There is a need for more information about the experience of growing up with a sibling with special needs.  We here at the Leukodystrophy Family Forum are working on a new children’s book to explore the feelings of siblings.  Many hospitals now run support groups for siblings of children with complex medical needs. 

 

Read Jamie Davis Smith’s Washington Post piece here. ​

Read Perri Klass’ NY Times essay here.

Read Norman Berlinger’s NY Times Magazine story here

You can watch this video produced by the Courageous Family Network on the perspective of being a sibling to a child with leukodystrophy here.

 
 
 
 
 
 
 
 

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